AutismKB 2.0

Annotation Detail for PRKAG2


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Basic Information Top
Gene Symbol:PRKAG2 ( AAKG,AAKG2,CMH6,H91620p,WPWS )
Gene Full Name: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Band: 7q36.1
Quick LinksEntrez ID:51422; OMIM: 602743; Uniprot ID:AAKG2_HUMAN; ENSEMBL ID: ENSG00000106617; HGNC ID: 9386
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04920Adipocytokine signaling pathway
hsa04910Insulin signaling pathway
hsa05410Hypertrophic cardiomyopathy (HCM)
Pathway IDPathway Name
Activated AMPK stimulates fatty-acid oxidation in muscle
Signaling by Insulin receptor
Metabolism of lipids and lipoproteins
Integration of energy metabolism
No data
No data
Pathway IDPathway Name
500602Import of palmitoyl-CoA into the mitochondrial matrix
500601Activated AMPK stimulates fatty-acid oxidation in muscle
500719AMPK inhibits chREBP transcriptional activation activity
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Cardiac diseases
H00292Hypertrophic cardiomyopathy (HCM)
No data
Desease Name
HEMATOLOGICAL
hemoglobin
hematocrit
Desease Name
Hemoglobin
Hematocrit
Chronic kidney disease
Desease Name
Wolff-Parkinson-White syndrome
Glycogen storage disease of heart, lethal congenital
Cardiomyopathy, hypertrophic 6, with WPW
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PRKAG2 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PRKAG2 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PRKAG2 mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PRKAG2 mRNAdecreases expression 19150397
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PRKAG2 mRNAaffects expression 17484886
D004390 Chlorpyrifos Chlorpyrifos affects the expression of PRKAG2 mRNAaffects expression 17452286
D016572 Cyclosporine Cyclosporine results in decreased expression of PRKAG2 mRNAdecreases expression 20106945
D003976 Diazinon Diazinon results in decreased expression of PRKAG2 mRNAdecreases expression 17452286
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of PRKAG2 mRNA]affects reaction|decreases expression 15016801
C006253 pirinixic acid pirinixic acid results in increased expression of PRKAG2 mRNAincreases expression 17426115
D011374 Progesterone Progesterone results in increased expression of PRKAG2 mRNAincreases expression 17404688
D013752 Tetracycline Tetracycline results in increased expression of PRKAG2 mRNAincreases expression 16917069
D014415 Tunicamycin Tunicamycin results in decreased expression of PRKAG2 mRNAdecreases expression 17127020
D014635 Valproic Acid Valproic Acid results in increased expression of PRKAG2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.578875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9819490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4520127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.4517638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.686695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5616434500
MESH:D000382 Agricultural Workers' Diseases Chlorpyrifos 9.4516611668 11874814 17119214
MESH:D000382 Agricultural Workers' Diseases Diazinon 9.4516487989
MESH:D000550 Amblyopia Valproic Acid 5.3317688650
MESH:D000740 Anemia Fluorouracil 3.7616511603 17963324 15504547
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6217497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1519183758
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8517157402 18775368 19232924 18558336 19460635 16609825 18396377 20603192 17688650 15238991 18316065 18985861 18940202 18177632 17507914
MESH:D001714 Bipolar Disorder Valproic Acid 3.1017594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2019483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.438888407
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4317868700
MESH:D001930 Brain Injuries Progesterone 4.3315845082 15665606 15380490
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9320146248 17474063
MESH:D001943 Breast Neoplasms Fluorouracil 1.9315136595 18357371 18608205 16595493 16557594 16110121 19217205
MESH:D001943 Breast Neoplasms Progesterone 1.9317614352 16175315 15562024
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8518705752 16227642 16124888 15673190 16011737 3786805 10355542 16192424 16097048 16050911 15700767 15721981
MESH:D002276 Carcinoid Tumor Fluorouracil 4.7616051944
MESH:D002277 Carcinoma Fluorouracil 3.6117121937
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.643084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.6421507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.6418788625
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.6417045692 17971768 16332177 17088986 18930000 16799960
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0418695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6920419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.6916757204 18986760 17066447 16280240
OMIM:600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 marker/mechanism
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.6820889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.6812371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7220734317
MESH:D002779 Cholestasis Cyclosporine 7.8919486331
MESH:D002779 Cholestasis pirinixic acid 7.8919176532
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2417725105 17287894 15001691 17169374 17018589 17172411 17016597 18772588 16510598 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0016524972 17695437 18288408 18383874 17016601 16331619 16391804 18802399 17094418 17255274 18949393 16303861 16282729 18509181 17594712 14970324 18448328 17454858 15289873 20501625 15148649 17401013
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.8917688650 16575769 8888407
MESH:D007644 Darier Disease Fluorouracil 4.8716733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003929 Diabetic Neuropathies Progesterone 4.5617187935
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1512540782 16081117 19420014 17522070 12153990 17906064 2444490 10663392 11739529 11421492 11743745 18713872 10774834 11461765 14986274 19739265 16227642 12705907 12958197 16177239 11834606 15968718 12594235 14725611 14550746 10915739 16485898 19416960 19164858 16109766 19923254 11287661 17562736 19085960 15619225 18071297 11529661 16781746 19370779 16393943 12392966
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.152869522 6884620 19085960 15998439 17522070 3786805 15968718 7179309 16227642 6623471 16177239 21278145 4309450 10092053 11566570 3732212 7440962 15027814 9327722 7120509 10915739 19336974
MESH:D056486 Drug-Induced Liver Injury Tetracycline 9.1517522070
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.1519641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004417 Dyspnea Diazinon 4.9016487989
MESH:D004421 Dystonia Valproic Acid 4.111851702
MESH:D004487 Edema pirinixic acid 2.5312083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8417692515
MESH:D004715 Endometriosis Progesterone 3.8216134523
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.2317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.013922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.637562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.377750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.153659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3120426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3116530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.3116785472 16481741 15173087 16337965 17638652
MESH:D005234 Fatty Liver Carbon Tetrachloride 25.2912631006 19224547 15959796 61145 17595544 16239168 12795759 16045604
MESH:D005234 Fatty Liver Cyclosporine 25.2919224547
MESH:D005234 Fatty Liver pirinixic acid 25.2919236843 20131406
MESH:D005234 Fatty Liver Tetracycline 25.2919224547 16917069
MESH:D005234 Fatty Liver Valproic Acid 25.2914986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 4.9816575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.198888407 18558336
MESH:D005355 Fibrosis Carbon Tetrachloride 8.9118705752
MESH:D005355 Fibrosis Cyclosporine 8.9112168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D005910 Glioma Fluorouracil 2.8916145905
OMIM:261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL marker/mechanism
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4215162350 18337622 15102660
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.6820471113
MESH:D006333 Heart Failure pirinixic acid 2.5720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006505 Hepatitis Carbon Tetrachloride 9.8319110552 19900420
MESH:D006505 Hepatitis Diazinon 9.8316487989
MESH:D006529 Hepatomegaly pirinixic acid 3.0718467677 16221962 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 4.9517688650
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6116899240
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1615338365
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4715869954
MESH:D007248 Infertility, Male Diazinon 3.8516466525 12948887
MESH:D007249 Inflammation Progesterone 2.6215869954
MESH:D007333 Insulin Resistance pirinixic acid 2.6616306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 5.8912587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 5.8918776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 7.5512371664
MESH:D007680 Kidney Neoplasms Fluorouracil 7.5516985049
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1616294345 17596541
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8321278145 17174718 16239168 11903743 17334410 17157831 11408273 16221502 16943688
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3417805973 12666154 16192424 15370692 12632514 14512876 12667390 18395095 15673190 18263696 15338365 12546737 18187930 12445418 17708605 12609069 15362042 16015684 15057751 12649538 13678700 16011737 15650968 14748882 18429990 17976157 17944888 18395914 16027843 17557913 12586293 17714472 18317297 18472332 18279442 15052691 17631135 17900296 12958196 17869086 17640975 18054572 17761835 16638106 15893842 18277467 11481614 17481882 16248980 18420326 18156304 17698563 12445421 14716833 18705752 17922224 20821823 12389079 16116963 18006644 15123356 15959796 12741479 14620537 18339082 15925388 10355542 15931870 15730626 18412020 15876570 16033810 18210741 12898905 17525996 18376398 18166357 16136751 17721639 18251166 17766677 18472094 18205269 15818738 12632512 14716496 17565644 16097048 14724832 17823541 18481824 15996030 18418968
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3415474484
MESH:D008107 Liver Diseases Acetaminophen 6.6812969438 16610002 16611625 19784758 11587558 19460945 12587719 19014921
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.6816964402 15720792 17285989 15830285 16246199
MESH:D008107 Liver Diseases Chlorpyrifos 6.6815991261
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2415123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.5816871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.5814706259 16899240
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.4515890375 2125692 18177683 9163691
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.4520195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.4519294768
MESH:D008113 Liver Neoplasms Fluorouracil 14.4518383874 17045692 16603448 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 14.4520007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.108603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1015583823 12014681
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.3617228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.4914755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4918569708 20869020 20464547 20064080 18816296 17053015 6695378 18520028 20135361
MESH:D008175 Lung Neoplasms Fluorouracil 3.4915246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.8715086387
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.9011408345 17203775
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2318803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.6716381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.6716757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.088888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1817596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D009369 Neoplasms Benzo(a)pyrene 8.3711141357
MESH:D009369 Neoplasms Fluorouracil 8.3718600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 8.3717405874
MESH:D009395 Nephritis, Interstitial Tetracycline 4.889884423
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3318481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.1616359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D020258 Neurotoxicity Syndromes Chlorpyrifos 8.4315081274
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 8.4316436463
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D010051 Ovarian Neoplasms Progesterone 2.5417393432 16525653
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6816500647 16929163 19003803 15113037
MESH:D010391 Pemphigoid, Bullous Tetracycline 5.5311026799
MESH:D011041 Poisoning Diazinon 4.4117603234
MESH:D011230 Precancerous Conditions Cyclosporine 3.2712371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.9120603192
MESH:D017096 Prion Diseases Tetracycline 5.4910903871
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2217292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2218626508 19082440
MESH:D019310 Pseudolymphoma Valproic Acid 4.6412752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0615538739 18286688 18722050 16160472
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012135 Respiratory Sounds Chlorpyrifos 4.7117119214 16611668 11874814
MESH:D012140 Respiratory Tract Diseases Chlorpyrifos 4.9917119214 16611668
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2319155313
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8718045962
MESH:D012559 Schizophrenia Valproic Acid 2.0715737665 19110320
MESH:D012640 Seizures Valproic Acid 2.771511512 15475178 14763951 3137016 17978042 11044598 16876388 11738929
MESH:D012729 Sex Chromosome Aberrations Chlorpyrifos 6.196418539
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.3910029692 19755658
MESH:D013119 Spinal Cord Injuries Progesterone 4.3616503802 15862959
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8219490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6412833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4320155912 2093021
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4319015929 16424979 18567086 17498489 17172411 17522103 18396642 15786421 19084572 16951190
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0416280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.3317262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.603119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2017053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.718888407
MESH:D014570 Urologic Diseases Diazinon 5.3716487989
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 3.9316803524
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D014927 Wolff-Parkinson-White Syndrome marker/mechanism
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
REACT:11163 Activated AMPK stimulates fatty-acid oxidation in muscle
KEGG:04920 Adipocytokine signaling pathway
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
KEGG:04910 Insulin signaling pathway
REACT:1505 Integration of energy metabolism
REACT:22258 Metabolism of lipids and lipoproteins
REACT:498 Signaling by Insulin receptor
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33752
    • No data
    Releated disease ID Related disease Name
    PA447216Schizophrenia
    PA153906318Autism Spectrum Disorder
    PA443890Diabetes Mellitus, Type 2
    PA443560Breast Neoplasms
    Releated drug ID Related drug Name
    PA164744376adenosine monophosphate
    PA164743471adenosine triphosphate
    PA449773glucose
    PA451283rosiglitazone
    PA450970pioglitazone
    PA450395metformin
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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